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970 积分 2025-05-15 加入
Genotype–phenotype characteristics and baseline natural history of Chinese myelin protein zero gene related neuropathy patients
1天前
已完结
MFSD2A-associated primary microcephaly - Expanding the clinical and mutational spectrum of this ultra-rare disease
1个月前
已完结
Novel compound heterozygous variants in EMC1: Overlapping phenotypes of left ventricular noncompaction and long QT syndrome warranting in‐depth exploration
1个月前
已完结
LRP5 BIALLELIC MUTATIONS CAUSE A HIGHER INCIDENCE OF SEVERE PHENOTYPE COMPARED WITH LRP5 MONOALLELIC MUTATION
1个月前
已完结
A novel MPIG6B gene mutation in an adolescent girl with congenital thrombocytopenia and myelofibrosis
2个月前
已完结
Prenatal diagnosis of X‐linked myotubular myopathy
2个月前
已完结
Whole exome sequencing discloses a pathogenic MTM1 gene mutation in a continuous polyhydramnios family in China: Case report and literature review
2个月前
已完结
Genetic diagnosis of kidney disease by whole exome sequencing and its clinical application
2个月前
已完结
Twenty-Four Novel Hemophilia B Mutations Revealed by Rapid Scanning of the Whole Factor IX Gene in a French Population Sample
2个月前
已关闭
Neurodegeneration with brain iron accumulation: a case series highlighting phenotypic and genotypic diversity in 20 Indian families
2个月前
已完结
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